Canonical Allele Identifier: CA2669480622

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001327-GATGTGGGGCGGGAGGCTGGCCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001331_1001354del , CM000666.2:g.1001331_1001354del	GRCh38
NC_000004.11:g.995119_995142del , CM000666.1:g.995119_995142del	GRCh37
NC_000004.10:g.985119_985142del	NCBI36
NG_008103.1:g.19335_19358del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.494-137_494-114del	ENSP00000247933.4:n.494-137_494-114del
ENST00000514224.2:c.494-137_494-114del MANE Select	ENSP00000425081.2:n.494-137_494-114del
ENST00000652070.1:n.550-137_550-114del
ENST00000247933.8:c.494-137_494-114del	ENSP00000247933.4:n.494-137_494-114del
ENST00000502910.5:c.353-137_353-114del	ENSP00000422952.1:n.353-137_353-114del
ENST00000504568.5:c.454-137_454-114del
ENST00000509948.5:c.287-137_287-114del	ENSP00000424227.1:n.287-137_287-114del
ENST00000514192.5:c.311-137_311-114del	ENSP00000423685.1:n.311-137_311-114del
ENST00000514224.1:c.98-137_98-114del	ENSP00000425081.1:n.98-137_98-114del
ENST00000514698.5:n.394-137_394-114del
NM_000203.4:c.494-137_494-114del	NP_000194.2:n.494-137_494-114del
NR_110313.1:n.582-137_582-114del
XM_006713882.2:c.98-137_98-114del	XP_006713945.1:n.98-137_98-114del
XM_011513459.1:c.353-137_353-114del	XP_011511761.1:n.353-137_353-114del
XM_011513460.1:c.353-137_353-114del	XP_011511762.1:n.353-137_353-114del
XM_011513461.1:c.287-137_287-114del	XP_011511763.1:n.287-137_287-114del
XM_011513462.1:c.206-137_206-114del	XP_011511764.1:n.206-137_206-114del
XM_011513463.1:c.206-137_206-114del	XP_011511765.1:n.206-137_206-114del
XR_924947.1:n.563-137_563-114del
NM_000203.5:c.494-137_494-114del MANE Select	NP_000194.2:n.494-137_494-114del
NM_001363576.1:c.98-137_98-114del	NP_001350505.1:n.98-137_98-114del
XM_011513461.2:c.287-137_287-114del	XP_011511763.1:n.287-137_287-114del
XM_017008163.1:c.-632_-609del	XP_016863652.1:n.-632_-609del